ORDO Find_IDs Find_Terms Annotation
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created at 2024-09-23 16:23:50 UTC
updated at 2024-09-23 18:22:39 UTC
Terms for rare diseases as defined in ORDO.
The entries were initially sourced from the ORDO version 2024-07-03 as stored in BioPortal.
Namespace: http://www.orpha.net/ORDO/
20,514 entries
Label
Id
CDG1C Orphanet_79320
ALG6-CDG Orphanet_79320
CDG-Ic Orphanet_79320
Glucosyltransferase 1 deficiency Orphanet_79320
Carbohydrate deficient glycoprotein syndrome type Ic Orphanet_79320
Congenital disorder of glycosylation type 1c Orphanet_79320
Congenital disorder of glycosylation type Ic Orphanet_79320
CDG syndrome type Ic Orphanet_79320